Publikationen von Vera M. Kalscheuer
Alle Typen
Zeitschriftenartikel (174)
1.
Zeitschriftenartikel
98 (5), S. 507 - 514 (2020)
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 2.
Zeitschriftenartikel
48 (17), S. 9804 - 9821 (2020)
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 3.
Zeitschriftenartikel
2020, S. 1 - 6 (2020)
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 4.
Zeitschriftenartikel
8 (10), e1418 (2020)
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 5.
Zeitschriftenartikel
106 (6), S. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 6.
Zeitschriftenartikel
24 (11), S. 1748 - 1768 (2019)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 7.
Zeitschriftenartikel
40 (8), S. 1057 - 1062 (2019)
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Human Mutation 8.
Zeitschriftenartikel
9, 10730 (2019)
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific Reports 9.
Zeitschriftenartikel
24 (7), S. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 10.
Zeitschriftenartikel
2019, S. 1 - 16 (2019)
Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 11.
Zeitschriftenartikel
12, 12:60 (2019)
Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 12.
Zeitschriftenartikel
28 (4), S. 598 - 614 (2019)
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 13.
Zeitschriftenartikel
179 (1), S. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 14.
Zeitschriftenartikel
95 (1), S. 151 - 159 (2019)
Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 15.
Zeitschriftenartikel
50 (10), S. 1442 - 1451 (2018)
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 16.
Zeitschriftenartikel
2018, 13412 (2018)
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 17.
Zeitschriftenartikel
293 (27), S. 10810 - 10824 (2018)
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 18.
Zeitschriftenartikel
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, S. 1 - 11 (2018)
19.
Zeitschriftenartikel
9 (1), 9:10 (2018)
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 20.
Zeitschriftenartikel
27 (4), S. 589 - 600 (2018)
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics